Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
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DOI：
10.1002/humu.1168
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发表时间：
2001-08-01
期刊：
影响因子：
3.9
通讯作者：
Pittler, S J
中科院分区：
文献类型：
--
作者：
Simovich, M J;Miller, B;Pittler, S J
Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for approximately 10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001.
